Abstract
INTRODUCTION: Disease trajectories are often uncertain among individuals living with mucopolysaccharidoses (MPS) due to the progressive nature of the illness and the goal of care. This study investigated the impact on caregivers and care providers of children and adults living with MPS. METHODS: The study used a cross-sectional design and a convenience sampling strategy which involved two sequential study components. The stage 1 quantitative component included three validated scales: the abbreviated World Health Organization Quality of Life (WHOQOL-BREF), the Paediatric Inventory for Parents (PIP) and the 14-item Resilience Scale (RS-14). The stage 2 qualitative component consisted of two focus groups with healthcare professionals (HCPs) (n = 9) working with children and adults living with MPS across three clinical sites in Ireland. Data were collected between November 2017 and July 2019. RESULTS: A total of 31 parents identified as caregivers participated in this study. The mean quality of life (QoL) score was 93.81, indicating a significantly high QoL. The PIP frequency total mean was 102.74 and difficulty mean 104.94. The mean score for the RS-14 was notably high, 81.42 out of a maximum of 98. The majority of the results showed high levels of concern for the future, with just under 50% finding themselves very often feeling scared that their child's condition will deteriorate or that their child will die and finding these thoughts very difficult. The healthcare professionals' (HCPs) perceptions were focused on the complexity of MPS, coping strategies, managing expectations and support services. CONCLUSION: The overall findings of the study reinforced the need for sustained and enhanced psychological support to ensure both families of children and adults living with MPS and the HCPs are supported in the continued delivery of quality patient care and outcomes. Subjective and objective measures from family caregivers and HCPs yield results that can decrease stress and improve psychological support. PLAIN LANGUAGE SUMMARY: Impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland Mucopolysaccharidoses (MPS) is a group of one of the many rare inherited metabolic disorders that come under category three of life-limiting conditions. Children born with this genetic condition show no change at birth, but effects start to show in subsequent years as it is a progressive disease. The severity of the condition varies according to the specific type, ranging from very mild symptoms to, in most cases, multisystemic, restricted growth or mental and physical disabilities. Recent developments in treatments for some forms of MPS have dramatically changed the quality of life (QoL) for patients. Other forms of treatment are currently under investigation and development. This study aimed to provide a detailed and reliable evidence base on the impact of caregiving for patients living with MPS on family caregivers and healthcare providers. Paper questionnaires were completed by the family caregivers of children and adults living with MPS. These three questionnaires focused on measuring QoL, parental stress and anxiety, and resilience among these families. Two focus group interviews were carried out with healthcare professionals working with children and adults living with MPS across three clinical sites in Ireland.A total of 31 parents completed the questionnaires in this study, indicating a significantly high QoL and notably high resilience. The majority of the parental stress results were related to concern for the future, with just half of the families finding themselves very often scared that their child's condition will deteriorate or that their child will die and find these thoughts very difficult. The healthcare providers also spoke about the complexity of MPS, coping strategies, managing expectations and support services for the families of children and adults living with MPS. This study provided evidence for clinicians and policymakers to improve the availability of appropriate healthcare provisions for people living with MPS and their families.